Journal article
PathOS: A decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories
KD Doig, A Fellowes, AH Bell, A Seleznev, D Ma, J Ellul, J Li, MA Doyle, ER Thompson, A Kumar, L Lara, R Vedururu, G Reid, T Conway, AT Papenfuss, SB Fox
Genome Medicine | BIOMED CENTRAL LTD | Published : 2017
Abstract
Background: The increasing affordability of DNA sequencing has allowed it to be widely deployed in pathology laboratories. However, this has exposed many issues with the analysis and reporting of variants for clinical diagnostic use. Implementing a high-throughput sequencing (NGS) clinical reporting system requires a diverse combination of capabilities, statistical methods to identify variants, global variant databases, a validated bioinformatics pipeline, an auditable laboratory workflow, reproducible clinical assays and quality control monitoring throughout. These capabilities must be packaged in software that integrates the disparate components into a useable system. Results: To meet thes..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
This research was supported by the Laby Foundation, The Peter Mac Foundation, Therapeutics Innovation Australia and a National Health and Medical Research Council (NHMRC) Program Grant (1054618). The research benefitted by support from the Victorian State Government Operational Infrastructure Support and Australian Government NHMRC Independent Research Institute Infrastructure Support.